血友病は,因子VIII遺伝子の内にある超変異性ダイヌクレオチドの繰り返しの分析による診断である
M R Lalloz1, J H McVey, J K Pattinson
1Haemostasis Research Group, Clinical Research Centre, Harrow, Middx, UK.
Lancet (London, England)
|July 27, 1991
まとめ
新しい遺伝子マーカーであるイントロン13 (CA) nリピートにより,A型血友病の診断のための因子VIII遺伝子の追跡が著しく改善されています. この高度に有益なマーカーは,以前の方法と比較して,家族研究でより迅速な結果を提供します.
科学分野:
- 人間の遺伝学 人間の遺伝学
- 分子生物学は分子生物学である.
- 医療診断 医療診断
背景:
- ヘモフィリアAの診断とキャリアの識別は,因子VIIIの遺伝子構造を理解することで進歩しました.
- 制限断片長ポリモルフィズム (RFLP) は,家族内の遺伝的欠陥の追跡を可能にしたが,時間がかかりました.
- 代替的な多形マーカーであるダイヌクレオチドリピート (CA) nは,因子VIII遺伝子内に存在する.
研究 の 目的:
- ヘモフィリアA.の遺伝子マーカーとしてイントロン13 (CA) nの繰り返しの有用性を調査する.
- この (CA) nの情報性と遺伝パターンを評価するために,家族研究で繰り返します.
主な方法:
- 従来のマッピングでは,因子VIII遺伝子の (CA) nリピートがイントロン13に局所化された.
- ポリメラーゼ連鎖反応 (PCR) は,92人の個体からゲノムDNAの (CA) n 繰り返し変異性を分析するために使用されました.
- X関連メンデリアン遺伝と,A型血友病との関連性を調べるために,家族研究が行われました.
主要な成果:
- (CA) nの繰り返しの8つのアレル帯が特定され,長さはn=16からn=24まででした.
- 研究された女性の91%は,この再発に対してヘテロジゴスであり,高いポリモルフィズムを示しています.
- イントロン13 (CA) nの繰り返しは,確立されたRFLPと密接な関連性を示し,家族研究で血友病Aと正確に追跡されました.
結論:
- イントロン13 (CA) nの繰り返しは,血友性Aの親類における因子VIII遺伝子の追跡のための非常に情報的な遺伝子マーカーです.
- このマーカーは,迅速な分析を可能にし,結果は1日以内に入手でき,以前の方法よりも改善されます.
- 家族からのDNAを必要としながら,A型血友症の遺伝学的研究に大きな進歩をもたらしています.
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